Rare Rheumatology News

Disease Profile

Cushing’s syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 100 000

3,310 - 29,790

US Estimated

1-9 / 100 000

5,135 - 46,215

Europe Estimated

Age of onset

All ages

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ICD-10

E24.0 E24.1 E24.2 E24.3 E24.4 E24.8 E24.9

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Cushing syndrome; Hypercortisolism; Nodular primary adrenocortical dysplasia;

Categories

Endocrine Diseases; Female Reproductive Diseases; Male Reproductive Diseases

Summary

Cushing's syndrome is an endocrine disorder caused by prolonged exposure of the body's tissues to high levels of cortisol (a hormone produced by the adrenal gland). It most commonly affects adults between age 20 and 50 years. Signs and symptoms of Cushing's syndrome include upper body obesity, fatigue, muscle weakness, high blood pressure, backache, high blood sugar, easy bruising and bluish-red stretch marks on the skin. Affected women may also experience irregular menstrual periods and increased growth of body and facial hair. This condition may be caused by a variety of factors including long-term use of corticosteroid medications, tumors in the pituitary gland or adrenal adenomas.Treatment depends on the underlying cause, but may include decreasing the dosage of corticosteroids or surgery to remove tumors.[1][2]

Symptoms

The signs and symptoms of Cushing's syndrome may include:[1]

  • Upper body obesity
  • Severe fatigue
  • Muscle weakness
  • High blood pressure
  • Backache
  • Elevated blood sugar
  • Easy bruising
  • Bluish-red stretch marks on the skin
  • Neurological issues

Women with Cushing's syndrome may also experience increased growth of facial and body hair, and menstrual periods may become irregular or cease.[1][2] Men may have decreased fertility, diminished sexual desire, and/or erectile dysfunction.[2]

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormal subcutaneous fat tissue distribution
Abnormal fat tissue distribution below the skin
0007552
Erectile dysfunction
Abnormal erection
Erectile abnormalities

[ more ]

0100639
Growth delay
Delayed growth
Growth deficiency
Growth failure
Growth retardation
Poor growth
Retarded growth

[ more ]

0001510
Round face
Circular face
Round facial appearance
Round facial shape

[ more ]

0000311
Thin skin
0000963
Truncal obesity
0001956
30%-79% of people have these symptoms
Acne
0001061
Anxiety
Excessive, persistent worry and fear
0000739
Bruising susceptibility
Bruise easily
Easy bruisability
Easy bruising

[ more ]

0000978
Decreased fertility
Abnormal fertility
0000144
Depressivity
Depression
0000716
Diabetes mellitus
0000819
Fatigue
Tired
Tiredness

[ more ]

0012378
Generalized hirsutism
Excessive hairiness over body
0002230
Hypertension
0000822
Hypokalemia
Low blood potassium levels
0002900
Irregular menstruation
Menstrual irregularity
0000858
Irritability
Irritable
0000737
Muscle weakness
Muscular weakness
0001324
Nephrolithiasis
Kidney stones
0000787
Osteoporosis
0000939
Purpura
Red or purple spots on the skin
0000979
Recurrent fractures
Increased fracture rate
Increased fractures
Multiple fractures
Multiple spontaneous fractures
Varying degree of multiple fractures

[ more ]

0002757
Striae distensae
Stretch marks
0001065
5%-29% of people have these symptoms
Abdominal pain
Pain in stomach
Stomach pain

[ more ]

0002027
Abnormality of the gastric mucosa
Abnormality of the mucous membrane layer of stomach
0004295
Avascular necrosis
Death of bone due to decreased blood supply
0010885
Cataract
Clouding of the lens of the eye
Cloudy lens

[ more ]

0000518
Dilated cardiomyopathy
Stretched and thinned heart muscle
0001644
Hypercalcemia
High blood calcium levels
Increased calcium in blood

[ more ]

0003072
Hypercholesterolemia
Elevated serum cholesterol
Elevated total cholesterol
Increased total cholesterol

[ more ]

0003124
Hyponatremia
Low blood sodium levels
0002902
Increased circulating cortisol level
0003118
Myopathy
Muscle tissue disease
0003198
Neoplasm of the adrenal gland
0100631
Psychosis
0000709
Reduced consciousness/confusion
Disturbances of consciousness
Lowered consciousness

[ more ]

0004372
Secondary amenorrhea
Previous menstrual periods stop
0000869
Sleep disturbance
Difficulty sleeping
Trouble sleeping

[ more ]

0002360
Telangiectasia of the skin
0100585
Percent of people who have these symptoms is not available through HPO
Adult onset
Symptoms begin in adulthood
0003581
Agitation
0000713
Decreased circulating ACTH level
0002920
Kyphosis
Hunched back
Round back

[ more ]

0002808
Macronodular adrenal hyperplasia
0008231
Mental deterioration
Cognitive decline
Cognitive decline, progressive
Intellectual deterioration
Progressive cognitive decline

[ more ]

0001268
Mood changes
Moody
0001575
Neoplasm
0002664
Osteopenia
0000938
Primary hypercortisolism
0001579
Skeletal muscle atrophy
Muscle degeneration
Muscle wasting

[ more ]

0003202
Somatic mutation
0001428
Sporadic
No previous family history
0003745

Cause

Cushing's syndrome is caused by long-term exposure of the body's tissues to cortisol, a hormone that is naturally produced by the adrenal gland. Exposure to too much cortisol can result from long-term use of corticosteriod medications used to treat inflammatory illnesses. Pituitary adenomas (benign tumors of the pituitary gland) or tumors of the adrenal gland may also cause cortisol imbalances.[1]

Treatment

The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.

Management Guidelines

  • The Endocrine Society Clinical Practice Guideline for Cushing's syndrome was developed by the Endocrine Society, a global network of endocrinologists working as physicians, researchers, clinicians, scientists, and educators. The guidelines provide evidence-based recommendations for clinical care and practice.

    FDA-Approved Treatments

    The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.

    • Mifepristone(Brand name: Korlym) Manufactured by Corcept Therapeutics, Inc.
      FDA-approved indication: Korlym is approved for use in patients with endogenous Cushing's syndrome who have type 2 diabetes or glucose intolerance and are not candidates for surgery or have not responded to prior surgery.
      National Library of Medicine Drug Information Portal
    • Pasireotide(Brand name: Signifor) Manufactured by Novartis Pharmaceuticals Corporation
      FDA-approved indication: June 2018, approved for the treatment of patients with Cushing’s disease for whom pituitary surgery is not an option or has not been curative. Also, December 2014, approved for the treatment of patients with acromegaly who have had an inadequate response to surgery and/or for whom surgery is not an option.
      National Library of Medicine Drug Information Portal

    Organizations

    Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

    Organizations Supporting this Disease

      Learn more

      These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

      Where to Start

        In-Depth Information

        • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
        • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
        • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
        • PubMed is a searchable database of medical literature and lists journal articles that discuss Cushing's syndrome. Click on the link to view a sample search on this topic.

          References

          1. NINDS Cushing's Syndrome Information Page. National Institute of Neurological Disorders and Stroke. July 2013; https://www.ninds.nih.gov/disorders/cushings/cushings.htm.
          2. Cushing's Syndrome. National Endocrine and Metabolic. April 2012; https://www.endocrine.niddk.nih.gov/pubs/cushings/cushings.aspx. Accessed 2/26/2013.

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